Group TurunenEye Genetics Group
The group performs and provides quality research in genetic eye diseases, identifies mutations behind them and provides individuals affected with genetic eye diseases an opportunity for accurate molecular diagnosis. We perform both clinical phenotypic and genetic laboratory studies to elucidate genetic causes and predisposition to eye diseases.
Uveal melanoma genetics and BAP1 cancer syndrome: Uveal melanoma is the most common primary intraocular cancer. It metastasizes in approximately one half of patients. For reasons unknown, the incidence of uveal melanoma is highest in northern latitudes. In Finland, all uveal melanoma patients are treated in the Helsinki University Hospital. Therefore, we have a very representative population-wide sample. We have reported that 2% of Finnish uveal melanoma patients harbor a mutation in the BAP1 gene, but this explains only 20% of familial cases. We are searching for new genes predisposing to this cancer using next generation sequencing techniques.
Inherited corneal dystrophies: We are investigating several genetic corneal diseases to identify new genes behind them.
Rare retinal diseases: Coats’ disease is a rare condition found in children and some adults where there is abnormal development of the blood vessels in the retina of the eye. It can lead severely decreased vision. Given that a smilar vasculopathy can be syndromic, we are currently performing whole exome sequencing studies to identify possible genetic causes of this disease.
Early-onset glaucoma: We are collecting samples to investigate the prevalence of pathogenic variants in the MYOC gene (Myocilin) in Finnish juvenile open angle glaucoma patients. Later, we will utilize whole exome genome wide screens to identify new glaucoma genes.
Pauliina Repo MSc
Reetta-Stiina Järvinen BSc
Johannes Jäntti BM
Turunen JA, Markkinen S, Wilska R, Saarinen S, Raivio V, Täll M, Lehesjoki AE, Kivelä TT. BAP1 Germline Mutations in Finnish Patients with Uveal Melanoma. Ophthalmology. 2016 May;123(5):1112-7.
Stadigh A, Puska P, Vesti E, Ristimäki A, Turunen JA, Kivelä TT. Ring melanoma of the anterior chamber angle as a mimicker of pigmentary glaucoma. Surv Ophthalmol. 2017 Feb 1.
Anna-Elina Lehesjoki MD PhD, professor
Martin Täll MD, ophthalmologist and ocular oncologist
Virpi Raivio MD, ocular oncologist and vitreoretinal surgeon
Rosi Wilska MD, ophthalmologist
Ilpo Tuisku MD PhD, anterior segment surgeon
Petri Järventausta MD, anterior segment surgeon
Mika Harju MD PhD, glaucoma surgeon